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Gene: Ppp2r5e MGI:1349473

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Gene Summary

Name:
protein phosphatase 2, regulatory subunit B', epsilon
Synonyms:
B56beta,  4633401M22Rik,  protein phosphatase 2A subunit beta

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased mean corpuscular volume Ppp2r5eem1(IMPC)Marc HOM Early adult 1.08×10-17
decreased exploration in new environment Ppp2r5eem1(IMPC)Marc HOM Early adult 1.01×10-08
decreased locomotor activity Ppp2r5eem1(IMPC)Marc HOM   Early adult 2.20×10-06
increased hematocrit Ppp2r5eem1(IMPC)Marc HOM Early adult 5.39×10-06
abnormal bone structure Ppp2r5eem1(IMPC)Marc HOM Early adult 3.53×10-05
decreased mean corpuscular hemoglobin concentration Ppp2r5eem1(IMPC)Marc HOM Early adult 2.60×10-07
abnormal locomotor behavior Ppp2r5eem1(IMPC)Marc HOM Early adult 1.69×10-05
decreased bone mineral content Ppp2r5eem1(IMPC)Marc HOM Early adult 4.01×10-05
decreased mean platelet volume Ppp2r5eem1(IMPC)Marc HOM Early adult 5.58×10-07
abnormal auditory brainstem response Ppp2r5eem1(IMPC)Marc HOM   Early adult 4.98×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Ppp2r5e mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ppp2r5e by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Sideroblastic anemia, Hypochromia OMIM:205950
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume OMIM:252270
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F ORPHA:46532
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... ORPHA:232
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Microtia, Persistence of hemoglobin F, Macrocytic anemia, Increase... OMIM:300946
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... OMIM:261000
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Increased mean corpuscular volume, ... OMIM:618849
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin, Decreased skull ossification ORPHA:3319
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Erythrocytosis, Familial, 5
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617907
Bleeding Disorder, Platelet-Type, 16
Anemia, Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocyto... OMIM:187800
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Erythrocytosis, Familial, 4
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:611783
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic... OMIM:616689
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Bone Marrow Failure And Diabetes Mellitus Syndrome
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume OMIM:620044
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... OMIM:314050
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Ataxia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Sensorineural hearing impairment, Impaired ADP-induced platelet aggregation, Impaired epinephrine... OMIM:155100
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Thrombocytopenia 1
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia OMIM:313900
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Methylcobalamin Deficiency Type Cble
Pancytopenia, Osteoporosis, Macrocytic anemia, Lethargy, Increased mean corpuscular volume, Neutr... ORPHA:2169
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular hemoglobin concentration, Congenital hemolytic anemia, Hemolytic anemi... ORPHA:3202
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Hypochromia, Erythroid hyperplasia OMIM:206100
Familial Pseudohyperkalemia
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Rickets... OMIM:611590
Delta-Beta-Thalassemia
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Erythrocytosis, Familial, 2
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:263400
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Increased mean corpuscular... ORPHA:98870
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... ORPHA:3203
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Lethargy, Megaloblastic anemia, Spastic ataxia OMIM:277410
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... OMIM:613673
Diamond-Blackfan Anemia 7
Osteoporosis, Osteopenia, Macrocytic anemia, Increased mean corpuscular volume, Neutropenia, Hear... OMIM:612562
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Myh9-Related Disease
Sensorineural hearing impairment, Giant platelets, Congenital thrombocytopenia, Neutrophil inclus... ORPHA:182050
Alpha-Thalassemia
Anemia, Cognitive impairment, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly,... ORPHA:846
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Anemia, Lymphopenia, Ataxia, Increased mean corpuscular volume, Thrombocytopenia, Apl... OMIM:127550
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant ... OMIM:231200
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impa... OMIM:617443
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos... OMIM:301000
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... ORPHA:320401
Beta-Thalassemia
Anemia, Thrombocytopenia, Irritability, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Red... ORPHA:848
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Majeed Syndrome
Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anemia of inadequat... OMIM:609628
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:300448
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Abnormal platelet granules, Giant platelets ORPHA:238459
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... OMIM:616860
Cyanosis, Transient Neonatal
Methemoglobinemia, Anemia, Reticulocytosis OMIM:613977
Elliptocytosis 3
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis OMIM:617948
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... OMIM:153670
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Sensorineural hearing impairment, Impaired platelet aggr... OMIM:124900
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance, Progressive sensorineural h... OMIM:125250
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Poikilocytosis, Decreased mean corpuscular volume, Hypochromia, Splenomegaly OMIM:615234
Bleeding Disorder, Platelet-Type, 19
Anemia, Thrombocytopenia, Macrothrombocytopenia OMIM:616176
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Erythroid hyperplasia, Hepatosplenomegaly, Persistence of hemoglobin F... ORPHA:231222
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Polyc... OMIM:600501
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Low-set ears, Thrombocytopenia, Increased mean platelet volume OMIM:300048
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Impaired neutrophil... ORPHA:811
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Choreoath... OMIM:617519
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Low-set ears, Reticulocytopenia, Microtia, Pure red cell apla... ORPHA:124
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Gait disturbance, Heari... OMIM:601455
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Increased mean corpuscular volume, Thrombocytopenia, Hearing impairment, ... ORPHA:261250
Sitosterolemia 1
Stomatocytosis, Anemia, Reticulocytosis, Impaired platelet aggregation, Episodic hemolytic anemia... OMIM:210250
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope... OMIM:169400
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis, Optic di... OMIM:616959
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal mean corpuscular volume, Leukocytosis, Thrombocytopenia, Anemia ... ORPHA:86839
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Gait disturbance, Emotional lability, Ataxia, Los... ORPHA:206443
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor... ORPHA:52368
Dominant Beta-Thalassemia
Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentration, Hepatos... ORPHA:231226
Gaisböck Syndrome
Increased mean corpuscular hemoglobin concentration, Increased red blood cell count, Increased he... ORPHA:90041
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Hypochromic microcytic anemia, Vestibular areflexia, Thrombo... ORPHA:3240
Beta-Thalassemia Major
Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased mean corpuscular hemoglobin c... ORPHA:231214
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Self-injurious behavior, Truncal ataxia, Limb ataxia, Persistence of hemoglobin F, Broad-based ga... OMIM:617101
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anemia, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Hepatosplenomegaly, Dec... ORPHA:300298
Congenital Disorder Of Glycosylation, Type Iig
Anemia, Conductive hearing impairment, Microtia, Cholesteatoma, Osteopenia, Giant platelets, Low-... OMIM:611209
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Difficulty walking, Abnormal cranial nerve morphology,... OMIM:601596
Takenouchi-Kosaki Syndrome
Sensorineural hearing impairment, Optic atrophy, Ataxia, Low-set ears, Thrombocytopenia, Increase... OMIM:616737
Bleeding Disorder, Platelet-Type, 17
Impaired epinephrine-induced platelet aggregation, Myelofibrosis, Macrothrombocytopenia, Increase... OMIM:187900
Adult Krabbe Disease
EEG abnormality, Gait disturbance, Ataxia, Progressive neurologic deterioration, Mental deteriora... ORPHA:206448
Hereditary Methemoglobinemia
Methemoglobinemia, Athetosis ORPHA:621
Lathosterolosis
Conductive hearing impairment, Anisopoikilocytosis, Hepatosplenomegaly, Osteoporosis, Schistocyto... OMIM:607330
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Absent brainstem aud... ORPHA:1215
Duodenal Neuroendocrine Tumor
Increased hematocrit, Iron deficiency anemia ORPHA:100076
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Impaired ristocetin-induced plate... ORPHA:274
Acute Interstitial Pneumonia
Reduced hematocrit ORPHA:79126
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, Splenomegal... OMIM:612690
Charcot-Marie-Tooth Disease Type 1F
Gait ataxia, Cognitive impairment, Sensorineural hearing impairment, Inability to walk, Absent br... ORPHA:101085
Acrocraniofacial Dysostosis
Craniosynostosis, Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineur... OMIM:201050
Adult-Onset Autosomal Dominant Leukodystrophy
Gait ataxia, Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Co... ORPHA:99027
Castleman Disease
Decreased mean corpuscular volume, Thrombocytopenia, Myelofibrosis, Anemia ORPHA:160
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatosplenomegaly, Poikilocytosis, Anisocytos... OMIM:618278
Leukodystrophy, Hypomyelinating, 13
Ataxia, Prolonged brainstem auditory evoked potentials, Irritability, Optic atrophy OMIM:616881
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hemolytic anemia ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hemolytic anemia ORPHA:529799
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Ataxia, Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment, Ataxia OMIM:619260
Trichohepatoenteric Syndrome 1
Splenomegaly, Cognitive impairment, Microtia, Thrombocytosis, Low-set ears, Increased mean platel... OMIM:222470
Cockayne Syndrome Type 1
Anemia, Abnormality of peripheral nerve conduction, Macrotia, Optic atrophy, Absent brainstem aud... ORPHA:90321
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Aplasia/Hypoplasia of the earlobes, Low-set, posteriorly rotated ears, Microcytic... ORPHA:98791
Cerebrotendinous Xanthomatosis
Aggressive behavior, Cognitive impairment, Abnormality of somatosensory evoked potentials, Optic ... ORPHA:909
Acquired Methemoglobinemia
Methemoglobinemia, Anxiety ORPHA:464453
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Infantile Krabbe Disease
Optic atrophy, Psychomotor deterioration, Decreased nerve conduction velocity, Progressive neurol... ORPHA:206436
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Optic atrophy, Increased mean platelet volume, Low-set, posteriorly rotated ears, Thrombocytopeni... ORPHA:487796
Lead Poisoning
Abnormal T cell morphology, Anemia, Cognitive impairment, Abnormality of the autonomic nervous sy... ORPHA:330015
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Eisenmenger Syndrome
Hypochromic microcytic anemia, Increased mean corpuscular volume, Lethargy, Iron deficiency anemia ORPHA:97214
Syndromic Diarrhea
Splenomegaly, Hypoplasia of the thymus, Lymphopenia, Thrombocytosis, Increased mean platelet volume ORPHA:84064
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Irregular ossification at anterior rib ends, Pancytopenia, Persis... OMIM:260400
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin, Low-set ears, Optic disc pallor, Sensorineural hearing impairment ORPHA:423479
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac... OMIM:609136
Mogs-Cdg
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Hepatosplen... ORPHA:79330
Cockayne Syndrome A
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Ivory epiph... OMIM:216400
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Sensorineural hearing impairment, Self-injurious behavior, Optic atrophy, Aganglionic meg... ORPHA:847
Cockayne Syndrome B
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Ivory epiph... OMIM:133540
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Thymoma
Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia ORPHA:99867
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Sensorineural hearing impairment, Reduced alpha/beta synthesis ratio, Microtia, Hypochromic micro... OMIM:301040
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Papilledema, Reduced hematocrit, Normochromic anemia ORPHA:91500
Trisomy 10P
Macrotia, Low voltage EEG, EEG with burst suppression, EEG with focal spikes, Abnormal auditory e... ORPHA:171929
Mend Syndrome
Abnormal auditory evoked potentials, Aggressive behavior, Low-set ears ORPHA:401973

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ppp2r5e

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ppp2r5e.

No publications found that use IMPC mice or data for Ppp2r5e.

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MGI Allele Allele Type Produced
Ppp2r5etm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ppp2r5eem1(IMPC)Marc Deletion Mice
Ppp2r5etm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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